Hidde H. Huidekoper

Biochemistry, Genetics and Molecular Biology · Life Sciences

19h-index1.3kcitations70works3.12yr avg
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Research Topics

Metabolism and Genetic Disorders(30), Lysosomal Storage Disorders Research(15), Glycogen Storage Diseases and Myoclonus(13), Folate and B Vitamins Research(10), Diet and metabolism studies(9)

Publications70 total

Mapping challenges in the accessibility of treatment products for urea cycle disorders
DiRROS repository (University of Maribor)·2026
Home infusion with recombinant human α-glucosidase in classic infantile and other children with Pompe disease is safe: The Dutch experience over 20 years with enzyme replacement therapy
Molecular Genetics and Metabolism·2026
Too Early to Tell? Balancing Diagnostic Accuracy of Newborn Screening for Propionic Acidemia Versus a Timely Referral
International Journal of Neonatal Screening·2025Open Access
Cerebrotendinous Xanthomatosis (CTX): Remaining Challenges and the Need for International Collaboration
2025
Mapping challenges in the accessibility of treatment products for urea cycle disorders: A survey of European healthcare professionals
Journal of Inherited Metabolic Disease·2024· 1 citedOpen Access
The European reference network for metabolic diseases (MetabERN) clinical pathway recommendations for Pompe disease (acid maltase deficiency, glycogen storage disease type II)
Orphanet Journal of Rare Diseases·2024· 17 citedOpen Access
Quality of life in children with erythropoietic protoporphyria: a case–control study
The Journal of Dermatology·2024· 6 citedOpen Access
5,10‐methenyltetrahydrofolate synthetase deficiency: An extreme rare defect of folate metabolism in two Dutch siblings
JIMD Reports·2024· 1 citedOpen Access
A Delphi Survey Study to Formulate Statements on the Treatability of Inherited Metabolic Disorders to Decide on Eligibility for Newborn Screening
International Journal of Neonatal Screening·2023· 7 citedOpen Access
Are Anti-rhGAA Antibodies a Determinant of Treatment Outcome in Adults with Late-Onset Pompe Disease? A Systematic Review
Biomolecules·2023· 6 citedOpen Access
Newborn screening for primary carnitine deficiency: who will benefit? – a retrospective cohort study
Journal of Medical Genetics·2023· 21 citedOpen Access
Home-Based Infusion of Alglucosidase Alfa Can Safely be Implemented in Adults with Late-Onset Pompe Disease: Lessons Learned from 18,380 Infusions
BioDrugs·2023· 10 citedOpen Access
Home-based enzyme replacement therapy in children and adults with Pompe disease; a prospective study
Orphanet Journal of Rare Diseases·2023· 17 citedOpen Access
Safety analysis of home-based enzyme replacement therapy with alglucosidase alfa in Pompe disease: A prospective study
Molecular Genetics and Metabolism·2023
Web-accessible application for identifying pathogenic transcripts with RNA-seq: Increased sensitivity in diagnosis of neurodevelopmental disorders
The American Journal of Human Genetics·2023· 53 citedOpen Access
Newborn screening for Cerebrotendinous Xanthomatosis: A retrospective biomarker study using both flow-injection and UPLC-MS/MS analysis in 20,000 newborns
Clinica Chimica Acta·2022· 19 citedOpen Access
Multi‐omics in classical galactosemia: Evidence for the involvement of multiple metabolic pathways
Journal of Inherited Metabolic Disease·2022· 15 citedOpen Access
Megalobastic anemia, infantile leukemia, and immunodeficiency caused by a novel homozygous mutation in the <i>DHFR</i> gene
Blood Advances·2022· 2 citedOpen Access
RNA-sequencing improves diagnosis for neurodevelopmental disorders by identifying pathogenic non-coding variants and reinterpretation of coding variants
2022· 3 citedOpen Access
Integration of metabolomics with genomics: Metabolic gene prioritization using metabolomics data and genomic variant (CADD) scores
Molecular Genetics and Metabolism·2022· 9 citedOpen Access
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Frequent Co-authors

Frédéric M. Vaz(11), Frits A. Wijburg(11), Annet M. Bosch(10), Janneke G. Langendonk(8), Gepke Visser(8), Sacha Ferdinandusse(7), Ans T. van der Ploeg(7), Nadine A. M. E. van der Beek(7), Mariëtte T. Ackermans(6), Johanna M. P. van den Hout(6), M. Estela Rubio‐Gozalbo(5), Carla E. M. Hollak(5), Ron A. Wevers(5), Aad Verrips(5), Mirian C. H. Janssen(5), I. Ditters(5), Albert H. Bootsma(4), Ronald J. A. Wanders(4), Mendy M. Welsink‐Karssies(4), Leo A. J. Kluijtmans(4)